Canonical Allele Identifier: CA358785073

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178363450A>T (hg19) ; chr4:g.177442296A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442296A>T , CM000666.2:g.177442296A>T	GRCh38
NC_000004.11:g.178363450A>T , CM000666.1:g.178363450A>T	GRCh37
NC_000004.10:g.178600444A>T	NCBI36
NG_011845.2:g.5208T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.80T>A MANE Select	ENSP00000264595.2:p.Leu27Gln
ENST00000264595.6:c.80T>A	ENSP00000264595.2:p.Leu27Gln
ENST00000506853.5:n.114T>A
ENST00000510955.5:n.114T>A
ENST00000511231.1:n.114T>A
NM_000027.3:c.80T>A	NP_000018.2:p.Leu27Gln
NM_001171988.1:c.80T>A	NP_001165459.1:p.Leu27Gln
NR_033655.1:n.208T>A
XM_006714123.2:c.80T>A	XP_006714186.1:p.Leu27Gln
XR_001741155.2:n.174T>A
NM_000027.4:c.80T>A MANE Select	NP_000018.2:p.Leu27Gln
NM_001171988.2:c.80T>A	NP_001165459.1:p.Leu27Gln
NR_033655.2:n.142T>A